نتایج جستجو برای: kearns
تعداد نتایج: 790 فیلتر نتایج به سال:
Richard Aschbacher*, Bruno Pichon, Mandy Wootton, Leanne Davies, Raffaella Binazzi, Rachel Pike, Mark Ganner, Robert Hill, Elisabetta Pagani, Iris Agreiter, Peter Mian, Clara Larcher, Angela Kearns Laboratorio Aziendale di Microbiologia e Virologia, Comprensorio Sanitario di Bolzano, Italy; Staphylococcus Reference Unit, Microbiology Services Colindale, Health Protection Agency, London, UK; Spe...
When mitochondrial diseases result from mutations found in the mitochondrial DNA, engineered mitochondrial-targeted nucleases such as mitochondrial-targeted zinc finger nucleases are shown to specifically eliminate the mutated molecules, leaving the wild-type mitochondrial DNA intact to replicate and restore normal copy number. In this issue, Gammage and colleagues successfully apply this impro...
PURPOSE To report the presentation of a rare case of Kearns-Sayre-like syndrome (KSS) CASE: A 14-year-old boy presented with progressive drooping of both upper eyelids for 10 years. Past history of right sided hemi-plegia and left facial nerve palsy was present. Examination (OU) showed total external ophthalmoplegia, ptosis and pigmentary retinopathy. The patient also had a short stature (heigh...
Introduction Herein, we describe the interesting case of a 13-year-old female with Kearns-Sayre syndrome (KSS) who underwent a successful T3 ~ L3 posterior spinal instrumentation and fusion (PSIF). KSS is a rare mitochondrial myopathy with only 226 cases reported in published literature as of 1992. It is the result of deletions in mitochondrial DNA and manifests as a triad of: 1) chronic progre...
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